Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut UNC79 57578 broad.mit.edu 37 14 94007150 94007150 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr14:94007150G>T ENST00000553484.1 + 13 1651 c.1497G>T c.(1495-1497)ctG>ctT p.L499L UNC79_ENST00000555664.1_Silent_p.L499L|UNC79_ENST00000256339.4_Silent_p.L322L|UNC79_ENST00000393151.2_Silent_p.L499L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 499 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATCAGAGGCTGCTCAGTCAAT 0.428000 4 105 0.014758 0.015971 1 1 0 TCF7L2 6934 broad.mit.edu 37 10 114905802 114905802 + Missense_Mutation SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr10:114905802G>C ENST00000545257.1 + 8 1328 c.821G>C c.(820-822)gGa>gCa p.G274A TCF7L2_ENST00000538897.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000349937.2_Missense_Mutation_p.G270A|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369395.1_Missense_Mutation_p.G299A|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000369397.4_Missense_Mutation_p.G251A|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G251A|TCF7L2_ENST00000355995.4_Missense_Mutation_p.G274A|TCF7L2_ENST00000536810.1_Missense_Mutation_p.G274A|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G298A Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 274 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) ATCACGACAGGAGGATTCAGA 0.512000 T VTI1A colorectal 13 180 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234681014 234681014 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:234681014G>A ENST00000305139.6 + 5 1547 c.1408G>A c.(1408-1410)Gcg>Acg p.A470T UGT1A4_ENST00000373409.3_Missense_Mutation_p.A472T|UGT1A1_ENST00000305208.5_Missense_Mutation_p.A471T|UGT1A5_ENST00000373414.3_Missense_Mutation_p.A472T|UGT1A6_ENST00000373424.1_Missense_Mutation_p.A203T|UGT1A7_ENST00000373426.3_Missense_Mutation_p.A468T|UGT1A8_ENST00000373450.4_Missense_Mutation_p.A468T|UGT1A9_ENST00000354728.4_Missense_Mutation_p.A468T|UGT1A10_ENST00000344644.5_Missense_Mutation_p.A468T|UGT1A3_ENST00000482026.1_Missense_Mutation_p.A472T NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GCACAAGGGCGCGCCACACCT 0.627000 4 143 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32323665 32323665 + Missense_Mutation SNP C C T rs141896420 TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr10:32323665C>T ENST00000302418.4 - 11 1521 c.1064G>A c.(1063-1065)cGg>cAg p.R355Q NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 355 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) AATAGTGTTCCGCAGGATCTT 0.338000 T """RET, ALK""" NSCLC 3 37 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158585762 158585762 + Silent SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:158585762T>A ENST00000424310.2 - 11 2267 c.1908A>T c.(1906-1908)cgA>cgT p.R636R RNF145_ENST00000519865.1_Silent_p.R636R|RNF145_ENST00000521606.2_Silent_p.R653R|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Silent_p.R650R|RNF145_ENST00000274542.2_Silent_p.R664R|RNF145_ENST00000518802.1_Silent_p.R666R NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 636 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTTATCTGGTCGTCTGGCAA 0.502000 15 209 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058210 43058210 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr20:43058210G>A ENST00000316099.3 + 10 1419 c.1330G>A c.(1330-1332)Gag>Aag p.E444K HNF4A_ENST00000457232.1_Missense_Mutation_p.E412K|HNF4A_ENST00000415691.1_Missense_Mutation_p.E434K NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 444 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CTCAGGGTCTGAGCCCTATAA 0.607000 9 234 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069173 6069173 + Missense_Mutation SNP T T G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chrX:6069173T>G ENST00000381095.3 - 2 962 c.335A>C c.(334-336)cAg>cCg p.Q112P NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q112P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q112P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q112P|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q112P NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 112 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATCCAGGTGCTGGGGGCACAC 0.532000 6 163 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161580280 161580280 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:161580280G>A ENST00000356592.3 + 10 1794 c.1334G>A c.(1333-1335)cGc>cAc p.R445H GABRG2_ENST00000393933.4_Missense_Mutation_p.R342H|GABRG2_ENST00000414552.2_Missense_Mutation_p.R485H|GABRG2_ENST00000361925.4_Missense_Mutation_p.R437H NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 437 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATACATATCCGCATTGCCAAA 0.493000 16 195 0 0 1 0 0 LYRM2 57226 broad.mit.edu 37 6 90348409 90348409 + Silent SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:90348409C>T ENST00000523377.1 - 1 63 c.27G>A c.(25-27)gcG>gcA p.A9A LYRM2_ENST00000520441.1_Silent_p.A9A|LYRM2_ENST00000520318.1_Silent_p.A9A NM_020466.4 NP_065199.1 Q9NU23 LYRM2_HUMAN LYR motif containing 2 9 kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) ACGTTAGCGTCGCTGGGGGTA 0.637000 8 174 0 0 1 0 0 LCE1B 353132 broad.mit.edu 37 1 152785166 152785166 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:152785166C>T ENST00000360090.3 + 1 720 c.244C>T c.(244-246)Cgc>Tgc p.R82C NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 82 Gly-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCACCACAGGCGCCGTAGGTC 0.692000 8 130 0 0 1 0 0 TRAF7 84231 broad.mit.edu 37 16 2223983 2223983 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr16:2223983G>T ENST00000326181.6 + 13 1329 c.1197G>T c.(1195-1197)gtG>gtT p.V399V NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 399 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 AGGGCCCTGTGTGGTGTCTCT 0.597000 6 160 1.26484e-09 1.81678e-09 1 1 0 CRAT 1384 broad.mit.edu 37 9 131860346 131860346 + Silent SNP C C T rs140100627 TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:131860346C>T ENST00000318080.2 - 11 1704 c.1410G>A c.(1408-1410)tcG>tcA p.S470S RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 470 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CCATGGAAGCCGAGCGGATGG 0.617000 5 248 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129909579 129909579 + Missense_Mutation SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:129909579A>G ENST00000222481.4 + 3 279 c.224A>G c.(223-225)cAg>cGg p.Q75R NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 75 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) GTCAACGTCCAGGCAGTCAAA 0.512000 5 84 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221314 67221314 + Missense_Mutation SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr16:67221314A>G ENST00000314586.6 - 5 1094 c.854T>C c.(853-855)gTc>gCc p.V285A EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 285 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GGCCAACTCGACTGGCAGGGC 0.657000 4 31 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49073536 49073536 + Silent SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr15:49073536T>C ENST00000380950.2 - 12 1621 c.1434A>G c.(1432-1434)aaA>aaG p.K478K CEP152_ENST00000325747.5_Silent_p.K385K|CEP152_ENST00000399334.3_Silent_p.K478K NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 478 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AAATTTCATCTTTTAGTTCTG 0.284000 3 57 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129377557 129377557 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chrX:129377557C>A ENST00000370978.4 - 5 514 c.361G>T c.(361-363)Gtt>Ttt p.V121F NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 121 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GCATTCTCAACAGTAACAGAG 0.393000 4 85 0.150653 0.154567 1 1 0 HPSE2 60495 broad.mit.edu 37 10 100904138 100904138 + Missense_Mutation SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr10:100904138A>G ENST00000370552.3 - 3 526 c.467T>C c.(466-468)gTt>gCt p.V156A HPSE2_ENST00000370549.1_Missense_Mutation_p.V156A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V156A|HPSE2_ENST00000404542.1_Intron NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 156 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) ATCTAAGGCAACATCACTTCG 0.408000 5 106 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46747043 46747043 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:46747043T>C ENST00000343304.6 - 5 1795 c.1510A>G c.(1510-1512)Atc>Gtc p.I504V LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 504 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AGGCGGAAGATGTTAGAGCCC 0.527000 6 63 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24889738 24889738 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr10:24889738C>A ENST00000396432.2 - 14 3455 c.2969G>T c.(2968-2970)aGt>aTt p.S990I ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S777I|ARHGAP21_ENST00000493154.1_Intron NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 989 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AGCATTAACACTGATGGGCTG 0.458000 6 118 8.12818e-05 9.87887e-05 1 1 0 SCIMP 388325 broad.mit.edu 37 17 5126671 5126671 + Silent SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:5126671C>A ENST00000574081.1 - 2 206 c.102G>T c.(100-102)ctG>ctT p.L34L SCIMP_ENST00000399600.4_Silent_p.L34L|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Silent_p.L34L|SCIMP_ENST00000571800.1_Silent_p.L34L|RP11-333E1.1_ENST00000573772.1_RNA NM_001271842.1|NM_207103.3 NP_001258771.1|NP_996986.1 Q6UWF3 CQ087_HUMAN SLP adaptor and CSK interacting membrane protein 34 integral to membrane GGATGAGGCCCAGACCCACAG 0.512000 27 451 4.74835e-14 6.88294e-14 1 1 0 WTIP 126374 broad.mit.edu 37 19 34981339 34981339 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:34981339G>T ENST00000590071.2 + 2 1063 c.726G>T c.(724-726)atG>atT p.M242I WTIP_ENST00000270288.6_Missense_Mutation_p.M466I NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GCCAGGCAATGGGGAGTCTTT 0.587000 5 78 5.18039e-06 6.76448e-06 1 1 0 CPS1 1373 broad.mit.edu 37 2 211464240 211464240 + Missense_Mutation SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:211464240G>C ENST00000233072.5 + 14 1700 c.1504G>C c.(1504-1506)Gat>Cat p.D502H CPS1_ENST00000451903.2_Missense_Mutation_p.D51H|CPS1_ENST00000430249.2_Missense_Mutation_p.D508H NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 502 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGAACAGCCAGATGGGTTAAT 0.473000 5 117 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17131235 17131235 + Missense_Mutation SNP A A T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr3:17131235A>T ENST00000418129.2 + 6 3302 c.2837A>T c.(2836-2838)gAt>gTt p.D946V PLCL2_ENST00000432376.1_Missense_Mutation_p.D946V NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1072 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGACAAGCAGATCTTTTGAAA 0.333000 5 103 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114515929 114515929 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:114515929C>T ENST00000369558.1 + 16 3660 c.3428C>T c.(3427-3429)gCa>gTa p.A1143V HIPK1_ENST00000369555.2_Missense_Mutation_p.A1098V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A1098V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A1143V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A1109V|HIPK1_ENST00000406344.1_Missense_Mutation_p.A749V|HIPK1_ENST00000340480.4_Missense_Mutation_p.A769V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A749V Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1143 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCATGCTGCAGCCTATACC 0.577000 7 185 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746614 94746614 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr8:94746614C>G ENST00000399300.2 - 3 2238 c.2025G>C c.(2023-2025)tgG>tgC p.W675C RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 675 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGGCCGTCTCCAGTCCTCCT 0.627000 6 213 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27499832 27499832 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr10:27499832C>T ENST00000396271.3 - 9 1241 c.1115G>A c.(1114-1116)gGa>gAa p.G372E ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.G263E|ACBD5_ENST00000375905.4_Missense_Mutation_p.G337E|ACBD5_ENST00000375888.1_Missense_Mutation_p.G381E|ACBD5_ENST00000375897.3_Missense_Mutation_p.G195E NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 381 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GCCATCTTCTCCTCCATGCTT 0.473000 9 243 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222802408 222802408 + Nonsense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:222802408G>T ENST00000344922.5 + 4 1871 c.1846G>T c.(1846-1848)Gag>Tag p.E616* MIA3_ENST00000344441.6_Nonsense_Mutation_p.E616*|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 616 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GCATCAACGTGAGGAATTGAA 0.478000 9 169 0.000274275 0.000321003 1 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 6 50 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71060598 71060598 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr8:71060598T>C ENST00000452400.2 - 12 2696 c.2515A>G c.(2515-2517)Atc>Gtc p.I839V NCOA2_ENST00000267974.4_5'UTR NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 839 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TCATTGATGATGGCTTGCTTG 0.493000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" OREG0018819 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 274 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47364148 47364148 + Silent SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr3:47364148C>T ENST00000232766.5 + 3 371 c.351C>T c.(349-351)ttC>ttT p.F117F KLHL18_ENST00000455924.2_Silent_p.F5F NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 117 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GGGCGAGCTTCCTGCAGCTGC 0.527000 4 50 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20258002 20258002 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr20:20258002G>T ENST00000245957.5 + 22 2772 c.2696G>T c.(2695-2697)cGg>cTg p.R899L C20orf26_ENST00000377309.2_Missense_Mutation_p.R255L NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 899 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACTATGTACCGGGATGCGATC 0.642000 11 124 4.68919e-08 6.55657e-08 1 1 0 ACP6 51205 broad.mit.edu 37 1 147126372 147126372 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:147126372C>A ENST00000369238.5 - 6 1164 c.717G>T c.(715-717)atG>atT p.M239I ACP6_ENST00000392988.2_Missense_Mutation_p.M239I NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 239 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) TGTCAATGCCCATCCTGTCCT 0.488000 6 162 2.0095e-06 2.69068e-06 1 1 0 ZNF257 113835 broad.mit.edu 37 19 22256355 22256355 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:22256355C>A ENST00000594947.1 + 3 359 c.215C>A c.(214-216)gCc>gAc p.A72D ZNF257_ENST00000600162.1_Missense_Mutation_p.A72D NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) GAGATGGTAGCCAAACCCCCA 0.438000 7 173 0.0381472 0.0399156 1 1 0 OR14I1 401994 broad.mit.edu 37 1 248845011 248845011 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:248845011C>A ENST00000342623.3 - 1 618 c.595G>T c.(595-597)Gcc>Tcc p.A199S NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 GAGCTCAGGGCCAGGGTCAAA 0.483000 5 82 1 1 1 1 0 SPEG 10290 broad.mit.edu 37 2 220354242 220354242 + Silent SNP G G A rs148685205 by1000genomes TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:220354242G>A ENST00000312358.7 + 36 8634 c.8502G>A c.(8500-8502)tcG>tcA p.S2834S SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2834 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCTTGTCCTCGCTCAAGGCTG 0.682000 4 105 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750279 142750279 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:142750279C>A ENST00000418316.1 + 1 863 c.842C>A c.(841-843)cCc>cAc p.P281H NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P281H(2) endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GTTCTCACCCCCTTTCTCAAT 0.493000 6 65 0.0215528 0.0227022 1 1 0 TRBV19 28568 broad.mit.edu 37 7 142327012 142327012 + RNA SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:142327012C>A ENST00000390393.3 + 0 518 CCAAAAGAACCCGACAGCTTT 0.498000 11 175 2.27111e-07 3.12031e-07 1 1 0 COL6A1 1291 broad.mit.edu 37 21 47417345 47417345 + Missense_Mutation SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr21:47417345G>C ENST00000361866.3 + 21 1523 c.1409G>C c.(1408-1410)gGc>gCc p.G470A NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 470 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GGCGAGGCTGGCCCTATCGGA 0.657000 5 95 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832365 72832365 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:72832365C>T ENST00000335464.5 + 10 1192 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344C NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 344 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CAACTTCGCGCGCTGTGACGT 0.617000 40 261 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15719605 15719605 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr16:15719605T>C ENST00000396368.3 - 8 1783 c.1577A>G c.(1576-1578)aAg>aGg p.K526R KIAA0430_ENST00000548025.1_Missense_Mutation_p.K523R|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K525R|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K523R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K348R NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 525 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GCTGACGCTCTTGCCATCCTT 0.468000 5 107 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814488 137814488 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:137814488G>T ENST00000409968.1 + 3 816 c.638G>T c.(637-639)gGt>gTt p.G213V THSD7B_ENST00000272643.3_Missense_Mutation_p.G213V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G182V|THSD7B_ENST00000543459.1_Missense_Mutation_p.G72V thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTCTCTTTGGTGGTTTGCAA 0.473000 11 289 7.03913e-09 1.00197e-08 1 1 0 LPHN2 23266 broad.mit.edu 37 1 82447497 82447497 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:82447497G>T ENST00000370728.1 + 21 3752 c.3107G>T c.(3106-3108)tGg>tTg p.W1036L LPHN2_ENST00000370727.1_Missense_Mutation_p.W1051L|LPHN2_ENST00000370721.1_Missense_Mutation_p.W961L|LPHN2_ENST00000394879.1_Missense_Mutation_p.W1038L|LPHN2_ENST00000370723.1_Missense_Mutation_p.W1038L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.W1023L|LPHN2_ENST00000370717.2_Missense_Mutation_p.W1051L|LPHN2_ENST00000271029.4_Missense_Mutation_p.W1051L|LPHN2_ENST00000370725.1_Missense_Mutation_p.W1051L|LPHN2_ENST00000335786.5_Missense_Mutation_p.W1036L|LPHN2_ENST00000370713.1_Missense_Mutation_p.W1023L|LPHN2_ENST00000370730.1_Missense_Mutation_p.W1036L|LPHN2_ENST00000359929.3_Missense_Mutation_p.W1023L|LPHN2_ENST00000370715.1_Missense_Mutation_p.W1023L O95490 LPHN2_HUMAN latrophilin 2 1036 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCCAGGTCTTGGGTGCTTGGC 0.398000 13 333 0.000151284 0.000182465 1 1 0 NFIL3 4783 broad.mit.edu 37 9 94171765 94171765 + Missense_Mutation SNP T T G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:94171765T>G ENST00000297689.3 - 2 1646 c.1252A>C c.(1252-1254)Atg>Ctg p.M418L NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 418 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 CTGTCTTTCATTTCAACAACT 0.403000 7 139 0 0 1 0 0 ID3 3399 broad.mit.edu 37 1 23885821 23885821 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:23885821C>A ENST00000374561.5 - 1 464 c.97G>T c.(97-99)Gca>Tca p.A33S ID3_ENST00000486541.1_5'UTR NM_002167.4 NP_002158.3 Q02535 ID3_HUMAN inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 33 negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity central_nervous_system(1)|lung(3) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TCCTCAGCTGCCGGGCCCTTC 0.682000 7 73 5.18039e-06 6.76448e-06 1 1 0 NUP214 8021 broad.mit.edu 37 9 134073760 134073760 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:134073760G>A ENST00000359428.5 + 29 5023 c.4879G>A c.(4879-4881)Ggc>Agc p.G1627S NUP214_ENST00000483497.2_Missense_Mutation_p.G453S|NUP214_ENST00000411637.2_Missense_Mutation_p.G1617S|NUP214_ENST00000451030.1_Missense_Mutation_p.G1628S P35658 NU214_HUMAN nucleoporin 214kDa 1627 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGTTGCTCCCGGCCCATCTGC 0.572000 T """DEK, SET, ABL1""" """AML, T-ALL""" 4 172 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486311 125486311 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:125486311C>T ENST00000259466.1 + 1 43 c.43C>T c.(43-45)Ctc>Ttc p.L15F NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 AGGCTTCATCCTCCTGGGCCT 0.493000 14 224 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204588645 204588645 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:204588645C>G ENST00000367175.1 - 1 2688 c.476G>C c.(475-477)aGg>aCg p.R159T LRRN2_ENST00000367177.3_Missense_Mutation_p.R159T|LRRN2_ENST00000367176.3_Missense_Mutation_p.R159T O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 159 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) AGAAAAGGCCCTGGGGGCGAT 0.597000 6 182 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056500 26056500 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:26056500C>G ENST00000343677.2 - 1 199 c.157G>C c.(157-159)Gag>Cag p.E53Q NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 53 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CCGCTACGCTCTTTAGAGGCG 0.552000 4 146 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238053848 238053848 + Missense_Mutation SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:238053848T>A ENST00000366570.4 - 1 246 c.88A>T c.(88-90)Agt>Tgt p.S30C RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 30 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGGAGCACACTGGAATAATCT 0.507000 5 47 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120740107 120740107 + Missense_Mutation SNP A A T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:120740107A>T ENST00000310396.5 + 7 1344 c.877A>T c.(877-879)Aca>Tca p.T293S CPED1_ENST00000450913.2_Missense_Mutation_p.T293S|CPED1_ENST00000423795.1_Missense_Mutation_p.T73S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TTCGACGGGCACAGTTTGGAA 0.418000 7 65 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013024 75013024 + Missense_Mutation SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr15:75013024T>A ENST00000379727.3 - 7 1543 c.1345A>T c.(1345-1347)Atc>Ttc p.I449F CYP1A1_ENST00000567032.1_Missense_Mutation_p.I449F|CYP1A1_ENST00000395048.2_Missense_Mutation_p.I449F|CYP1A1_ENST00000395049.4_Missense_Mutation_p.I420F P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 449 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) ATGCCAAAGATAATCACCTTC 0.517000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 7 159 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128324438 128324438 + Silent SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:128324438A>G ENST00000262462.4 + 3 1841 c.831A>G c.(829-831)ggA>ggG p.G277G SLC27A6_ENST00000395266.1_Silent_p.G277G|SLC27A6_ENST00000506176.1_Silent_p.G277G Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 277 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GAATTTCTGGATGTGTTGAGT 0.358000 6 175 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69721517 69721517 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr15:69721517G>A ENST00000260363.4 + 10 1154 c.1037G>A c.(1036-1038)cGg>cAg p.R346Q KIF23_ENST00000395392.2_Missense_Mutation_p.R346Q|KIF23_ENST00000558585.1_Missense_Mutation_p.R163Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R163Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R346Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R346Q NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 346 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 AGAACTAACCGGACCAGAGCA 0.363000 3 36 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232347 21232347 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:21232347C>A ENST00000233242.1 - 26 7520 c.7393G>T c.(7393-7395)Gca>Tca p.A2465S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2465 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGTTTTAATGCTTCAGCTTTT 0.408000 6 130 0.0215528 0.0227022 1 1 0 KIAA0556 23247 broad.mit.edu 37 16 27781322 27781322 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr16:27781322G>T ENST00000261588.4 + 21 4135 c.4116G>T c.(4114-4116)ctG>ctT p.L1372L NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1372 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CTCAGCTGCTGCCCCAGCCGG 0.617000 12 149 7.93312e-07 1.08055e-06 1 1 0 KIF20A 10112 broad.mit.edu 37 5 137521655 137521655 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:137521655C>A ENST00000394894.3 + 17 2357 c.2131C>A c.(2131-2133)Cat>Aat p.H711N KIF20A_ENST00000508792.1_Missense_Mutation_p.H693N NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 711 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTCAGAGTTGCATAAGTATCA 0.418000 3 38 0.115264 0.119814 1 1 0 NF1 4763 broad.mit.edu 37 17 29652837 29652837 + Splice_Site SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:29652837G>T ENST00000358273.4 + 37 5218 c.e37-1 NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTTTCCTTAGGTTCAAAACT 0.299000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 68 1 1 1 1 0 TRGV3 6976 broad.mit.edu 37 7 38398165 38398165 + RNA SNP T T C rs2392554 TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:38398165T>C ENST00000390346.2 - 0 484 AATTAGATTTTGCAGTCTCAA 0.468000 6 134 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141755405 141755405 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:141755405G>A ENST00000475668.2 + 28 3416 c.3362G>A c.(3361-3363)cGc>cAc p.R1121H MGAM_ENST00000549489.2_Missense_Mutation_p.R1121H O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1121 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGTTTATCCGCATCTCCACC 0.473000 10 142 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553782 19553782 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr14:19553782C>A ENST00000409832.3 + 1 418 c.366C>A c.(364-366)gaC>gaA p.D122E NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 122 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CTTGGGGAGACTACGACGACA 0.597000 7 1085 0.014758 0.015971 1 1 0 DLAT 1737 broad.mit.edu 37 11 111910004 111910004 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:111910004C>G ENST00000280346.6 + 7 1671 c.1012C>G c.(1012-1014)Cct>Gct p.P338A DLAT_ENST00000537636.1_Missense_Mutation_p.P109A|DLAT_ENST00000393051.1_Missense_Mutation_p.P233A NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 338 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) GCCTTTAGCTCCTACACCTTC 0.453000 6 284 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196673453 196673453 + Nonsense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:196673453C>A ENST00000312428.6 - 53 10136 c.10036G>T c.(10036-10038)Gag>Tag p.E3346* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3346 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CGCATAAACTCTCTACGAATG 0.368000 5 107 1.23904e-05 1.57878e-05 1 1 0 BTBD9 114781 broad.mit.edu 37 6 38256120 38256120 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:38256120T>C ENST00000481247.1 - 8 1533 c.1382A>G c.(1381-1383)tAc>tGc p.Y461C BTBD9_ENST00000408958.1_Missense_Mutation_p.Y393C|BTBD9_ENST00000419706.2_Missense_Mutation_p.Y431C|BTBD9_ENST00000314100.6_Missense_Mutation_p.Y393C|BTBD9_ENST00000403056.1_Missense_Mutation_p.Y461C NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 461 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 GTGACATGTGTAGCCAGAATC 0.468000 6 63 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228479863 228479863 + Splice_Site SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:228479863G>T ENST00000570156.2 + 44 11964 c.e44+1 OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000359599.6_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACCATCAGGGGTAAAGATCAT 0.597000 4 113 0.184627 0.186994 1 1 0 CCNL2 81669 broad.mit.edu 37 1 1323337 1323337 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:1323337T>C ENST00000400809.3 - 9 1120 c.1115A>G c.(1114-1116)aAc>aGc p.N372S CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.N150S NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 372 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GTCCTACCCGTTCACGGGGCT 0.602000 6 97 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38910317 38910317 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr4:38910317G>T ENST00000358869.2 + 7 938 c.762G>T c.(760-762)acG>acT p.T254T FAM114A1_ENST00000515037.1_Silent_p.T47T NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 254 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGACCAAGACGCTCATGGAGA 0.378000 4 49 0.00024832 0.000294997 1 1 0 FN1 2335 broad.mit.edu 37 2 216296657 216296657 + Missense_Mutation SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:216296657T>A ENST00000354785.4 - 4 815 c.446A>T c.(445-447)aAg>aTg p.K149M FN1_ENST00000443816.1_Missense_Mutation_p.K149M|FN1_ENST00000426059.1_Missense_Mutation_p.K149M|FN1_ENST00000336916.4_Missense_Mutation_p.K149M|FN1_ENST00000346544.3_Missense_Mutation_p.K149M|FN1_ENST00000345488.5_Missense_Mutation_p.K149M|FN1_ENST00000323926.6_Missense_Mutation_p.K149M|FN1_ENST00000432072.2_Missense_Mutation_p.K149M|FN1_ENST00000421182.1_Missense_Mutation_p.K149M|FN1_ENST00000359671.1_Missense_Mutation_p.K149M|FN1_ENST00000357867.4_Missense_Mutation_p.K149M|FN1_ENST00000357009.2_Missense_Mutation_p.K149M|FN1_ENST00000356005.4_Missense_Mutation_p.K149M|FN1_ENST00000446046.1_Missense_Mutation_p.K149M P02751 FINC_HUMAN fibronectin 1 149 Fibrin- and heparin-binding 1.|Fibronectin type-I 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCACCAATCTTGTAGGACTG 0.458000 7 185 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27278902 27278902 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:27278902C>G ENST00000360131.4 + 7 1420 c.1261C>G c.(1261-1263)Ccc>Gcc p.P421A AGBL5_ENST00000323064.8_Missense_Mutation_p.P421A NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 421 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATACCATCCCCCCCAAAGA 0.517000 30 251 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20331617 20331617 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr16:20331617G>T ENST00000302555.5 - 5 974 c.825C>A c.(823-825)ccC>ccA p.P275P GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.P278P|GP2_ENST00000341642.5_Silent_p.P128P|GP2_ENST00000381360.5_Silent_p.P131P P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 278 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TAGCCTGGACGGGGCTGGTCA 0.562000 5 122 3.59834e-05 4.5483e-05 1 1 0 MXRA8 54587 broad.mit.edu 37 1 1290366 1290366 + Silent SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:1290366C>G ENST00000309212.6 - 5 675 c.645G>C c.(643-645)ccG>ccC p.P215P MXRA8_ENST00000445648.2_Silent_p.P215P|MXRA8_ENST00000342753.4_Silent_p.P114P NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 215 Ig-like V-type 2. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGCGGTCGTGCGGGACCCCGG 0.736000 3 15 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8167823 8167823 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:8167823G>T ENST00000314666.6 + 17 2086 c.1953G>T c.(1951-1953)caG>caT p.Q651H PFAS_ENST00000545834.1_Missense_Mutation_p.Q227H NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 651 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCATGCTGCAGCCTCTGGCCT 0.647000 5 94 0.00116845 0.00132816 1 1 0 CYP2A13 1553 broad.mit.edu 37 19 41601771 41601771 + Silent SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:41601771T>C ENST00000330436.3 + 9 1410 c.1410T>C c.(1408-1410)gaT>gaC p.D470D NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 470 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CGCCTAAGGATATCGACGTGT 0.562000 4 210 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110036057 110036057 + Silent SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:110036057C>T ENST00000453089.2 + 5 3035 c.2154C>T c.(2152-2154)gaC>gaT p.D718D ZC3H12C_ENST00000528673.1_Silent_p.D750D|ZC3H12C_ENST00000278590.3_Silent_p.D749D Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 749 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CGAGAATAGACAGCATCTCTG 0.572000 9 192 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111910035 111910035 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:111910035C>G ENST00000280346.6 + 7 1702 c.1043C>G c.(1042-1044)cCt>cGt p.P348R DLAT_ENST00000537636.1_Missense_Mutation_p.P119R|DLAT_ENST00000393051.1_Missense_Mutation_p.P243R NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 348 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) CCAGCTACTCCTGCTGGACCA 0.443000 4 246 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371782 139371782 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:139371782G>A ENST00000313050.7 - 1 359 c.286C>T c.(286-288)Cac>Tac p.H96Y NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2060 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCATGTGTGTGAGGAACAAGC 0.582000 5 133 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365530 36365530 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:36365530G>A ENST00000221891.4 + 9 1373 c.1181G>A c.(1180-1182)gGc>gAc p.G394D APLP1_ENST00000537454.2_Missense_Mutation_p.G355D|APLP1_ENST00000586861.1_Missense_Mutation_p.G388D|APLP1_ENST00000589298.2_3'UTR NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 394 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCTTGGAGGGCTTCCTGGCA 0.682000 4 133 0 0 1 0 0 RBFA 79863 broad.mit.edu 37 18 77797373 77797373 + Nonsense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr18:77797373C>G ENST00000306735.5 + 3 383 c.245C>G c.(244-246)tCa>tGa p.S82* RBFA_ENST00000262197.7_Nonsense_Mutation_p.S82*|RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR NM_024805.2 NP_079081.2 Q8N0V3 RBFA_HUMAN ribosome binding factor A (putative) 82 rRNA processing mitochondrion endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 AGGAGCACCTCAAAGAAAACC 0.527000 4 109 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10434993 10434993 + Missense_Mutation SNP G G T rs150566222 TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:10434993G>T ENST00000245503.5 - 22 3038 c.2654C>A c.(2653-2655)aCg>aAg p.T885K MYH2_ENST00000397183.2_Missense_Mutation_p.T885K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 885 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T885M(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTCAACAGCGTCACCATCTT 0.433000 4 106 0.00909568 0.00997998 1 1 0 C20orf26 26074 broad.mit.edu 37 20 20269545 20269545 + Missense_Mutation SNP G G T rs80161121 byFrequency TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr20:20269545G>T ENST00000245957.5 + 23 3165 c.3089G>T c.(3088-3090)cGg>cTg p.R1030L C20orf26_ENST00000377309.2_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 1030 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AATCTTGACCGGCTCATCCCC 0.502000 6 25 0.00307968 0.00347564 1 1 0 UBR2 23304 broad.mit.edu 37 6 42619760 42619760 + Splice_Site SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:42619760G>A ENST00000372899.1 + 24 2823 c.e24-1 UBR2_ENST00000372883.3_Splice_Site|UBR2_ENST00000372901.1_Splice_Site NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTTTTTATTAGGCAGAAGAAG 0.338000 8 160 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52198700 52198700 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr20:52198700G>T ENST00000371471.2 - 2 1091 c.666C>A c.(664-666)ggC>ggA p.G222G ZNF217_ENST00000302342.3_Silent_p.G222G O75362 ZN217_HUMAN zinc finger protein 217 222 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GAAATAGGAAGCCACAAACCA 0.507000 12 187 6.40141e-05 7.96396e-05 1 1 0 MMP3 4314 broad.mit.edu 37 11 102710879 102710879 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:102710879C>A ENST00000299855.5 - 6 1151 c.895G>T c.(895-897)Gtc>Ttc p.V299F NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 299 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AGAGTGCTGACAGCATCAAAG 0.483000 4 91 0.00909568 0.00997998 1 1 0 CLEC12B 387837 broad.mit.edu 37 12 10168267 10168267 + Silent SNP A A T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr12:10168267A>T ENST00000396502.1 + 5 749 c.621A>T c.(619-621)tcA>tcT p.S207S CLEC12B_ENST00000338896.5_Silent_p.S207S|RP11-133L14.5_ENST00000544225.1_RNA NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 207 C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 TGGGATTATCATGGGACTCCT 0.433000 9 135 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882443 228882443 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:228882443C>A ENST00000392056.3 - 7 3173 c.3127G>T c.(3127-3129)Gca>Tca p.A1043S SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1043S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1043 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATCTTGGCTGCCACTTCATTG 0.512000 8 141 0.000274275 0.000321003 1 1 0 KPRP 448834 broad.mit.edu 37 1 152732834 152732834 + Missense_Mutation SNP C C T rs147534038 byFrequency TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:152732834C>T ENST00000368773.1 + 2 828 c.770C>T c.(769-771)cCt>cTt p.P257L KPRP_ENST00000606109.1_Missense_Mutation_p.P257L NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 257 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGCCTTCCTCCTCCTCGG 0.607000 8 98 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633442 32633442 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:32633442C>A ENST00000242310.4 - 1 2225 c.2136G>T c.(2134-2136)caG>caT p.Q712H NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 712 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCATGCCAACCTGCATCATTA 0.413000 4 153 1.23904e-05 1.57878e-05 1 1 0 MAGEA4 4103 broad.mit.edu 37 X 151092424 151092424 + Silent SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chrX:151092424A>G ENST00000360243.2 + 3 555 c.288A>G c.(286-288)ccA>ccG p.P96P MAGEA4_ENST00000276344.2_Silent_p.P96P|MAGEA4_ENST00000393920.1_Silent_p.P96P|MAGEA4_ENST00000393921.1_Silent_p.P96P|MAGEA4_ENST00000370340.3_Silent_p.P96P|MAGEA4_ENST00000370337.4_Silent_p.P96P|MAGEA4_ENST00000370335.1_Silent_p.P96P NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 96 GP -> EA (in Ref. 3; BAA06841). protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGGGGCCAAGCACCTCGC 0.567000 7 111 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10296304 10296304 + Silent SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:10296304A>G ENST00000403437.2 - 37 5401 c.5307T>C c.(5305-5307)gcT>gcC p.A1769A CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1769 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCAGCTCCTCAGCCATCATGG 0.478000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 6 203 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183616853 183616853 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:183616853C>T ENST00000264065.6 + 16 1904 c.1489C>T c.(1489-1491)Ctt>Ttt p.L497F NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 497 Thioredoxin 2. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATCAAATCTTCTTTATGGTCA 0.358000 6 139 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66521990 66521990 + Silent SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:66521990C>G ENST00000589228.1 + 7 773 c.645C>G c.(643-645)gtC>gtG p.V215V PRKAR1A_ENST00000358598.2_Silent_p.V215V|PRKAR1A_ENST00000588188.2_Silent_p.V215V|PRKAR1A_ENST00000536854.2_Silent_p.V215V|PRKAR1A_ENST00000586397.1_Silent_p.V215V|PRKAR1A_ENST00000392711.1_Silent_p.V215V NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 215 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) CAGCCACTGTCAAAGCAAAGA 0.438000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 19 97 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21226340 21226340 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:21226340G>T ENST00000602326.1 - 14 2282 c.1699C>A c.(1699-1701)Cta>Ata p.L567I EIF4G3_ENST00000537738.1_Missense_Mutation_p.L14I|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L561I|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.L561I|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L281I|EIF4G3_ENST00000544689.1_Missense_Mutation_p.L104I|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L567I|EIF4G3_ENST00000536266.1_Missense_Mutation_p.L165I NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 561 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ACTTTTTTTAGGTCAGAGGGG 0.418000 7 281 8.12818e-05 9.87887e-05 1 1 0 ASMT 438 broad.mit.edu 37 X 1743162 1743162 + Splice_Site SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chrX:1743162C>G ENST00000381241.3 + 3 444 c.244_splice c.e3-1 p.A82_splice ASMT_ENST00000381229.4_Splice_Site_p.A82_splice|ASMT_ENST00000381233.3_Splice_Site_p.A82_splice NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 82 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGTGTTTCAGCTTTCTATCGA 0.522000 8 189 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230486707 230486707 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:230486707G>T ENST00000321327.2 - 5 980 c.981C>A c.(979-981)atC>atA p.I327I PGBD5_ENST00000525115.1_Silent_p.I228I|PGBD5_ENST00000391860.1_Silent_p.I182I Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 228 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GGCTCACCTGGATGATGAAGC 0.557000 4 108 0.00024832 0.000294997 1 1 0 HEY2 23493 broad.mit.edu 37 6 126080787 126080787 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:126080787G>A ENST00000368364.3 + 5 1050 c.853G>A c.(853-855)Gca>Aca p.A285T HEY2_ENST00000368365.1_Missense_Mutation_p.A239T NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 285 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CTTCGCGGGGGCATTCCCCAT 0.662000 5 338 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4088278 4088278 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:4088278G>T ENST00000341657.4 - 12 1569 c.1534C>A c.(1534-1536)Cag>Aag p.Q512K ANKFY1_ENST00000570535.1_Missense_Mutation_p.Q554K|ANKFY1_ENST00000574367.1_Missense_Mutation_p.Q512K|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 512 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GCGCCTTGCTGCAGGAGCTCT 0.607000 5 59 0.184627 0.186994 1 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145755946 145755946 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr8:145755946C>T ENST00000276826.5 - 10 3313 c.3112G>A c.(3112-3114)Gcc>Acc p.A1038T ARHGAP39_ENST00000540274.1_Missense_Mutation_p.A1038T|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.A1069T Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 1038 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 ATCACCATGGCCAGGTTGCTG 0.677000 3 25 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4259739 4259739 + Splice_Site SNP A A T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr7:4259739A>T ENST00000404826.2 + 39 5678 c.e39-1 SDK1_ENST00000389531.3_Splice_Site NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGCGGCTGCAGGGGTGAGCA 0.567000 4 83 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240036859 240036859 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:240036859C>A ENST00000345617.3 - 13 2457 c.1666G>T c.(1666-1668)Gtg>Ttg p.V556L HDAC4_ENST00000541256.1_Missense_Mutation_p.V530L|HDAC4_ENST00000543185.1_Missense_Mutation_p.V140L NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 556 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TTCACCTGCACGCCGGCCTGT 0.697000 8 196 0.000442599 0.000510443 1 1 0 HSF5 124535 broad.mit.edu 37 17 56540598 56540598 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:56540598C>T ENST00000323777.3 - 4 1196 c.1087G>A c.(1087-1089)Gat>Aat p.D363N NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 363 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTATTTTCATCAGTAGTACTG 0.403000 4 138 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632530 32632530 + Silent SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:32632530G>T ENST00000242310.4 - 1 3137 c.3048C>A c.(3046-3048)cgC>cgA p.R1016R NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1016 R -> C (in dbSNP:rs35905429). male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCAGGGAAAGGCGACGAAGGT 0.458000 14 342 1.99824e-07 2.76948e-07 1 1 0 SNTG1 54212 broad.mit.edu 37 8 51617179 51617179 + Missense_Mutation SNP G G A rs150099561 by1000genomes TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr8:51617179G>A ENST00000522124.1 + 16 1719 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q SNTG1_ENST00000517473.1_Missense_Mutation_p.R353Q|SNTG1_ENST00000276467.5_Missense_Mutation_p.R353Q|SNTG1_ENST00000518864.1_Missense_Mutation_p.R353Q NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 353 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CTGCTGGACCGACGGAAACAG 0.557000 5 113 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94975606 94975606 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr12:94975606C>A ENST00000261226.4 - 2 918 c.787G>T c.(787-789)Ggc>Tgc p.G263C TMCC3_ENST00000551457.1_Missense_Mutation_p.G232C NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 263 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TCGGCCGAGCCTGACGTGCCA 0.602000 7 92 5.18039e-06 6.76448e-06 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123155939 123155939 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr4:123155939T>C ENST00000264501.4 + 27 3708 c.3335T>C c.(3334-3336)tTa>tCa p.L1112S KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1112S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1112S Q2LD37 K1109_HUMAN KIAA1109 1112 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTGTGGTTTTTATGGCCAGAT 0.338000 11 102 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151288608 151288608 + Missense_Mutation SNP C C G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:151288608C>G ENST00000368875.2 - 3 966 c.386G>C c.(385-387)aGa>aCa p.R129T PI4KB_ENST00000368874.4_Missense_Mutation_p.R117T|PI4KB_ENST00000368873.1_Missense_Mutation_p.R117T|PI4KB_ENST00000271657.5_Missense_Mutation_p.R129T|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.R117T NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 117 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCGCCGTCTTCTTGCTCCTTT 0.527000 7 111 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547920 100547920 + Silent SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chrX:100547920C>A ENST00000372907.3 - 1 125 c.114G>T c.(112-114)ggG>ggT p.G38G TAF7L_ENST00000372905.2_5'UTR NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 38 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TGGTTTCAGACCCACGGTCGA 0.527000 19 361 8.34094e-07 1.12638e-06 1 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120351073 120351073 + Missense_Mutation SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:120351073G>C ENST00000397843.2 + 38 4337 c.4171G>C c.(4171-4173)Gag>Cag p.E1391Q ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1372Q|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1288Q NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1391 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ACATAGTGATGAGAATCCATC 0.438000 T MLL AML 5 132 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 3 41 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632528 32632528 + Missense_Mutation SNP A A T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr9:32632528A>T ENST00000242310.4 - 1 3139 c.3050T>A c.(3049-3051)cTt>cAt p.L1017H NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1017 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTTCAGGGAAAGGCGACGAAG 0.453000 14 347 0 0 1 0 0 CWF19L2 143884 broad.mit.edu 37 11 107299926 107299926 + Silent SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:107299926T>C ENST00000282251.5 - 8 1059 c.1032A>G c.(1030-1032)ttA>ttG p.L344L CWF19L2_ENST00000433523.1_Silent_p.L344L NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 344 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TACACGTTTCTAAAGACCCAG 0.348000 3 67 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628560 51628560 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:51628560G>A ENST00000440804.3 + 1 396 c.329G>A c.(328-330)aGa>aAa p.R110K SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R110K NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 110 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGAGATGCCAGAAGAAGTGAT 0.498000 5 111 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38897346 38897346 + Silent SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:38897346C>T ENST00000359357.3 + 73 10781 c.10527C>T c.(10525-10527)ggC>ggT p.G3509G DNAH8_ENST00000441566.1_Silent_p.G3473G|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.G3726G dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTCCTTGGGCCGACCCCTTC 0.408000 6 107 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400529 78400529 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr12:78400529G>T ENST00000397909.2 + 8 1384 c.1211G>T c.(1210-1212)aGt>aTt p.S404I NAV3_ENST00000266692.7_Missense_Mutation_p.S404I|NAV3_ENST00000228327.6_Missense_Mutation_p.S404I|NAV3_ENST00000536525.2_Missense_Mutation_p.S404I Q8IVL0 NAV3_HUMAN neuron navigator 3 404 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGCCTCCCAGTTCAGGACCT 0.488000 HNSCC(70;0.22) 6 195 2.7689e-08 3.90612e-08 1 1 0 SPATA17 128153 broad.mit.edu 37 1 217915384 217915384 + Nonsense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:217915384G>T ENST00000366933.4 + 6 518 c.463G>T c.(463-465)Gag>Tag p.E155* NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 155 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) CGAAAGGGAAGAGAAGAAAAG 0.458000 5 115 1.23904e-05 1.57878e-05 1 1 0 FBN2 2201 broad.mit.edu 37 5 127671178 127671178 + Nonsense_Mutation SNP A A T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:127671178A>T ENST00000508053.1 - 35 4790 c.3816T>A c.(3814-3816)taT>taA p.Y1272* FBN2_ENST00000508989.1_Nonsense_Mutation_p.Y1239*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.Y1272*|FBN2_ENST00000507835.1_Nonsense_Mutation_p.Y122* P35556 FBN2_HUMAN fibrillin 2 1272 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCATCAGGGCATAACCCTCAC 0.418000 16 205 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140992398 140992398 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:140992398G>T ENST00000389484.3 - 90 14587 c.13616C>A c.(13615-13617)cCc>cAc p.P4539H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4539 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) taggtagatgggcggcgctgt 0.423000 TSP Lung(27;0.18) 6 80 0.0215528 0.0227022 1 1 0 SEPP1 6414 broad.mit.edu 37 5 42800829 42800829 + Nonsense_Mutation SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:42800829G>C ENST00000514985.1 - 5 1395 c.1139C>G c.(1138-1140)tCa>tGa p.S380* SEPP1_ENST00000506577.1_Nonsense_Mutation_p.S380*|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.S380*|CCDC152_ENST00000361970.5_3'UTR NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 380 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TATTTAGTTTGAAGGTCATTC 0.373000 7 118 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28273162 28273162 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr15:28273162C>T ENST00000354638.3 - 4 525 c.370G>A c.(370-372)Gaa>Aaa p.E124K OCA2_ENST00000353809.5_Missense_Mutation_p.E124K|OCA2_ENST00000382996.2_Missense_Mutation_p.E124K NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 124 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CAAGACTCTTCAGCAGTGATG 0.507000 Oculocutaneous Albinism 4 164 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4088277 4088277 + Missense_Mutation SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:4088277T>A ENST00000341657.4 - 12 1570 c.1535A>T c.(1534-1536)cAg>cTg p.Q512L ANKFY1_ENST00000570535.1_Missense_Mutation_p.Q554L|ANKFY1_ENST00000574367.1_Missense_Mutation_p.Q512L|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 512 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GGCGCCTTGCTGCAGGAGCTC 0.607000 5 61 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70502213 70502213 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:70502213C>A ENST00000310961.5 + 21 2513 c.2095C>A c.(2095-2097)Cag>Aag p.Q699K LRRC7_ENST00000035383.5_Missense_Mutation_p.Q694K|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 694 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTCGCCTTCCCAGGCTTCCTC 0.443000 5 113 0.000602214 0.000689492 1 1 0 POTEH 23784 broad.mit.edu 37 22 16267008 16267008 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr22:16267008C>T ENST00000343518.6 - 9 1492 c.1441G>A c.(1441-1443)Gat>Aat p.D481N NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 481 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ATTAATCCATCATCACCATTG 0.428000 7 486 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215259840 215259840 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:215259840G>T ENST00000444842.2 + 2 326 c.176G>T c.(175-177)tGg>tTg p.W59L KCNK2_ENST00000391894.2_Missense_Mutation_p.W44L|KCNK2_ENST00000391895.2_Missense_Mutation_p.W55L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 59 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GTTATGAAATGGAAGACGGTC 0.512000 10 62 0.00621372 0.00696289 1 1 0 SLC9A6 10479 broad.mit.edu 37 X 135126815 135126815 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chrX:135126815G>A ENST00000370695.4 + 16 2073 c.2038G>A c.(2038-2040)Gtt>Att p.V680I SLC9A6_ENST00000370701.1_Missense_Mutation_p.V628I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.V648I NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 648 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) AACACGCCTGGTTCTTCCAAT 0.453000 5 140 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216649 10216649 + Missense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:10216649G>T ENST00000418404.3 - 29 4170 c.4007C>A c.(4006-4008)gCc>gAc p.A1336D MYH13_ENST00000570743.1_Missense_Mutation_p.A1336D|MYH13_ENST00000252172.4_Missense_Mutation_p.A1336D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1336 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGACTGCAGGGCGTGCGCCAT 0.547000 5 115 0.0215528 0.0227022 1 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103060498 103060498 + Missense_Mutation SNP T T C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:103060498T>C ENST00000375735.2 + 45 7534 c.7390T>C c.(7390-7392)Tca>Cca p.S2464P DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S2464P|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2464 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GGGTTCTTCATCAAAAATTTA 0.323000 4 128 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111910014 111910014 + Missense_Mutation SNP C C T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:111910014C>T ENST00000280346.6 + 7 1681 c.1022C>T c.(1021-1023)tCa>tTa p.S341L DLAT_ENST00000537636.1_Missense_Mutation_p.S112L|DLAT_ENST00000393051.1_Missense_Mutation_p.S236L NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 341 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) CCTACACCTTCAGCACCCTGC 0.463000 5 281 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:7577559G>A ENST00000420246.2 - 7 854 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCATGCAGGAACTGTTACA 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 73 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8713907 8713907 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr20:8713907G>A ENST00000378641.3 + 19 2386 c.1911G>A c.(1909-1911)atG>atA p.M637I PLCB1_ENST00000378637.2_Missense_Mutation_p.M637I|PLCB1_ENST00000338037.6_Missense_Mutation_p.M637I|PLCB1_ENST00000494924.1_3'UTR NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 637 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAATAAATATGGGGATGTATG 0.393000 10 133 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43372245 43372245 + Missense_Mutation SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:43372245C>A ENST00000244296.2 - 5 1388 c.1251G>T c.(1249-1251)tgG>tgT p.W417C PSG1_ENST00000403380.3_Intron|PSG1_ENST00000436291.2_Intron|PSG1_ENST00000312439.6_Intron|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) ATGCTGGGATCCACTTACCAG 0.478000 19 361 2.39556e-15 3.50462e-15 1 1 0 MMP3 4314 broad.mit.edu 37 11 102710880 102710880 + Silent SNP A A C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:102710880A>C ENST00000299855.5 - 6 1150 c.894T>G c.(892-894)gcT>gcG p.A298A NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 298 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GAGTGCTGACAGCATCAAAGG 0.483000 4 93 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29404639 29404639 + Missense_Mutation SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr2:29404639T>A ENST00000320081.5 + 16 2253 c.1998T>A c.(1996-1998)gaT>gaA p.D666E CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.D666E NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 666 CAP-Gly 3. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) GAAAAAATGATGGGTCAGTGG 0.507000 9 173 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23394235 23394235 + Silent SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr14:23394235G>A ENST00000324366.8 - 8 1015 c.792C>T c.(790-792)ttC>ttT p.F264F PRMT5_ENST00000216350.8_Silent_p.F203F|PRMT5_ENST00000538452.1_Silent_p.F158F|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Silent_p.F247F|PRMT5_ENST00000553897.1_Silent_p.F220F|PRMT5_ENST00000397440.4_Silent_p.F93F NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 264 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CTGTGATGATGAACTGCACCT 0.473000 5 187 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125061964 125061964 + Silent SNP A A G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr8:125061964A>G ENST00000522917.1 + 22 3047 c.2841A>G c.(2839-2841)ggA>ggG p.G947G FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.G947G NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 947 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATCTCTCTGGAGGGGATCTCC 0.537000 9 108 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7335132 7335132 + Missense_Mutation SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:7335132G>C ENST00000318881.6 + 3 1241 c.1004G>C c.(1003-1005)aGg>aCg p.R335T SYT9_ENST00000396716.2_Missense_Mutation_p.R303T NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 335 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GATTTCCCCAGGGAGTGCATC 0.468000 5 146 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862982 10862982 + RNA SNP C C A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr21:10862982C>A ENST00000559480.1 + 0 278 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 ACCAGGGACACATCCATGAGC 0.507000 9 872 0.000442599 0.000510443 1 1 0 C20orf26 26074 broad.mit.edu 37 20 20258003 20258003 + Silent SNP G G C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr20:20258003G>C ENST00000245957.5 + 22 2773 c.2697G>C c.(2695-2697)cgG>cgC p.R899R C20orf26_ENST00000377309.2_Silent_p.R255R NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 899 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTATGTACCGGGATGCGATCC 0.642000 10 127 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125828848 125828848 + Nonsense_Mutation SNP G G T TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr3:125828848G>T ENST00000393434.2 - 20 2635 c.2286C>A c.(2284-2286)tgC>tgA p.C762* ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.C661*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.C772*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.C762* NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 762 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CGCCATGCTGGCAGTACTCCA 0.612000 4 45 0.150653 0.154567 1 1 0 ZNF160 90338 broad.mit.edu 37 19 53572139 53572139 + Missense_Mutation SNP A A C TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr19:53572139A>C ENST00000601421.1 - 3 2416 c.1540T>G c.(1540-1542)Tca>Gca p.S514A ZNF160_ENST00000599056.1_Missense_Mutation_p.S550A|ZNF160_ENST00000429604.1_Missense_Mutation_p.S550A|ZNF160_ENST00000418871.1_Missense_Mutation_p.S550A Q9HCG1 ZN160_HUMAN zinc finger protein 160 550 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CTAAGGTGTGATTTTTGAGTG 0.418000 6 103 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241680549 241680549 + Missense_Mutation SNP T T G TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:241680549T>G ENST00000366560.3 - 2 238 c.200A>C c.(199-201)tAt>tCt p.Y67S FH_ENST00000493477.1_5'UTR NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 67 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) GGCGCCATAATACTTATCATT 0.403000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 8 92 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85716095 85716095 + Missense_Mutation SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr4:85716095G>A ENST00000322366.6 - 20 3612 c.3205C>T c.(3205-3207)Cct>Tct p.P1069S WDFY3_ENST00000295888.4_Missense_Mutation_p.P1069S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1069 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTATTTGTAGGAGCATTATGA 0.378000 4 40 0 0 1 0 0 LOC100288069 100288069 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 2 4 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127782271 127782271 + Frame_Shift_Del DEL C C - TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr5:127782271delC ENST00000508053.1 - 13 1829 c.855delG c.(853-855)ggfs p.G285fs FBN2_ENST00000508989.1_Frame_Shift_Del_p.G252fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.G285fs P35556 FBN2_HUMAN fibrillin 2 285 EGF-like 4; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTTGGCATATCCCTGGGATAG 0.393 17 150 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142860298 142860299 + RNA INS - - T rs143051118 by1000genomes TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr6:142860298_142860299insT ENST00000447311.1 - 0 364 NR_027312.1 ttaggccagtatttttttttta 0.470 3 4 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 357 --- --- --- --- MARK2 2011 broad.mit.edu 37 11 63672263 63672263 + Frame_Shift_Del DEL C C - TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr11:63672263delC ENST00000402010.2 + 16 2261 c.1682delC c.(1681-1683)gcfs p.A561fs MARK2_ENST00000513765.2_Frame_Shift_Del_p.A528fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.A561fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.A527fs|MARK2_ENST00000408948.3_Frame_Shift_Del_p.A473fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.A561fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.A481fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.A506fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.A507fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.A473fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.A506fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.A507fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.A560fs NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 561 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CACAGCACAGCCCCCCAGCGT 0.642 12 155 --- --- --- --- TBC1D3P5 440419 broad.mit.edu 37 17 25754047 25754047 + RNA DEL T T - TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr17:25754047delT ENST00000586223.1 + 0 1595 NR_033892.1 GACGCTGTTCTTttttttttt 0.453 2 4 --- --- --- --- DSEL 92126 broad.mit.edu 37 18 65180466 65180466 + Frame_Shift_Del DEL C C - TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 044d44bc-4455-45df-a367-2b7d8445acc8 30f20fed-2910-4203-bb2c-bfefef047218 g.chr18:65180466delC ENST00000310045.7 - 2 2883 c.1410delG c.(1408-1410)tgfs p.W470fs CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 460 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TAAAACTTCTCCACCCATCAA 0.443 7 150 --- --- --- ---